Catalog

Craniolenticulosutural dysplasia

No MMS code

Link to WHO Definition

Craniolenticulosutural dysplasia – http://id.who.int/icd/entity/970423180

Craniolenticulosutural dysplasia, also known as Boyadjiev-Jabs syndrome, is characterised by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalised skeletal dysplasia.